Human Phenotype Ontology 
Grandparent Node:
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Involuntary movements (HP:0004305)help
Parent Node:
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Tremor (HP:0001337)help
..Starting node
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Action tremor (HP:0002345)help
Term ID: 2345
Name: Action tremor
Synonym: Ataxic tremor
Definition: A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.
Comments:
Reference: HP:0002345
Genes and Diseases:
 
       Child Nodes:
........expandPostural tremor (HP:0002174) help
................... HP:0007351 Upper limb postural tremor
........expandVocal tremor (HP:0012477) help
........expandIsometric tremor (HP:0030185) help
........expandKinetic tremor (HP:0030186) help
................... HP:0002080 Intention tremor
........expandTitubation (HP:0030187) help
................... HP:0002599 Head titubation
................... HP:0030147 Truncal titubation

 Sister Nodes: 
..expandResting tremor (HP:0002322) help
..expandRubral tremor (HP:0030665) help
..expandTremor by anatomical site (HP:0030188) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002345HP:0002345Action tremor0ATN1 CL E G H1822101ORPHA11133033607462
HP:0002345HP:0002345Action tremor0ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0002345HP:0002345Action tremor0JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112514203605268
HP:0002345HP:0002345Action tremor0NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM155817646610661
HP:0002345HP:0002345Action tremor0PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1449305604325
HP:0002345HP:0002345Action tremor0SLC30A10 CL E G H55532309854ORPHA118825355611146
HP:0002345HP:0002345Action tremor0SLC9A1 CL E G H6548616291Lichtenstein-knorr syndrome616291C4225383OMIM16611071107310
HP:0002345HP:0002345Action tremor0UROC1 CL E G H131669210128ORPHA18026444613012
HP:0002345HP:0002174Postural tremor1ATN1 CL E G H1822101ORPHA11133033607462
HP:0002345HP:0030187Titubation1ATN1 CL E G H1822101ORPHA11133033607462
HP:0002345HP:0030186Kinetic tremor1ATN1 CL E G H1822101ORPHA11133033607462
HP:0002345HP:0012477Vocal tremor1ATN1 CL E G H1822101ORPHA11133033607462
HP:0002345HP:0030185Isometric tremor1ATN1 CL E G H1822101ORPHA11133033607462
HP:0002345HP:0030186Kinetic tremor1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0002345HP:0030187Titubation1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0002345HP:0030185Isometric tremor1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0002345HP:0012477Vocal tremor1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0002345HP:0002174Postural tremor1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0002345HP:0030186Kinetic tremor1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112514203605268
HP:0002345HP:0030187Titubation1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112514203605268
HP:0002345HP:0030185Isometric tremor1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112514203605268
HP:0002345HP:0012477Vocal tremor1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112514203605268
HP:0002345HP:0002174Postural tremor1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112514203605268
HP:0002345HP:0002174Postural tremor1NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM155817646610661
HP:0002345HP:0030186Kinetic tremor1NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM155817646610661
HP:0002345HP:0030187Titubation1NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM155817646610661
HP:0002345HP:0012477Vocal tremor1NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM155817646610661
HP:0002345HP:0030185Isometric tremor1NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM155817646610661
HP:0002345HP:0002174Postural tremor1PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1449305604325
HP:0002345HP:0030186Kinetic tremor1PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1449305604325
HP:0002345HP:0030187Titubation1PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1449305604325
HP:0002345HP:0012477Vocal tremor1PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1449305604325
HP:0002345HP:0030185Isometric tremor1PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1449305604325
HP:0002345HP:0030186Kinetic tremor1SLC30A10 CL E G H55532309854ORPHA118825355611146
HP:0002345HP:0030187Titubation1SLC30A10 CL E G H55532309854ORPHA118825355611146
HP:0002345HP:0030185Isometric tremor1SLC30A10 CL E G H55532309854ORPHA118825355611146
HP:0002345HP:0012477Vocal tremor1SLC30A10 CL E G H55532309854ORPHA118825355611146
HP:0002345HP:0002174Postural tremor1SLC30A10 CL E G H55532309854ORPHA118825355611146
HP:0002345HP:0030186Kinetic tremor1SLC9A1 CL E G H6548616291Lichtenstein-knorr syndrome616291C4225383OMIM16611071107310
HP:0002345HP:0030187Titubation1SLC9A1 CL E G H6548616291Lichtenstein-knorr syndrome616291C4225383OMIM16611071107310
HP:0002345HP:0030185Isometric tremor1SLC9A1 CL E G H6548616291Lichtenstein-knorr syndrome616291C4225383OMIM16611071107310
HP:0002345HP:0012477Vocal tremor1SLC9A1 CL E G H6548616291Lichtenstein-knorr syndrome616291C4225383OMIM16611071107310
HP:0002345HP:0002174Postural tremor1SLC9A1 CL E G H6548616291Lichtenstein-knorr syndrome616291C4225383OMIM16611071107310
HP:0002345HP:0002174Postural tremor1UROC1 CL E G H131669210128ORPHA18026444613012
HP:0002345HP:0030187Titubation1UROC1 CL E G H131669210128ORPHA18026444613012
HP:0002345HP:0030186Kinetic tremor1UROC1 CL E G H131669210128ORPHA18026444613012
HP:0002345HP:0012477Vocal tremor1UROC1 CL E G H131669210128ORPHA18026444613012
HP:0002345HP:0030185Isometric tremor1UROC1 CL E G H131669210128ORPHA18026444613012
HP:0002345HP:0030147Truncal titubation2ATN1 CL E G H1822101ORPHA11133033607462
HP:0002345HP:0002599Head titubation2ATN1 CL E G H1822101ORPHA11133033607462
HP:0002345HP:0002080Intention tremor2ATN1 CL E G H1822101ORPHA11133033607462
HP:0002345HP:0007351Upper limb postural tremor2ATN1 CL E G H1822101ORPHA11133033607462
HP:0002345HP:0007351Upper limb postural tremor2ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0002345HP:0030147Truncal titubation2ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0002345HP:0002080Intention tremor2ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0002345HP:0002599Head titubation2ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0002345HP:0007351Upper limb postural tremor2JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112514203605268
HP:0002345HP:0030147Truncal titubation2JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112514203605268
HP:0002345HP:0002080Intention tremor2JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112514203605268
HP:0002345HP:0002599Head titubation2JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112514203605268
HP:0002345HP:0030147Truncal titubation2NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM155817646610661
HP:0002345HP:0002599Head titubation2NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM155817646610661
HP:0002345HP:0002080Intention tremor2NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM155817646610661
HP:0002345HP:0007351Upper limb postural tremor2NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM155817646610661
HP:0002345HP:0030147Truncal titubation2PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1449305604325
HP:0002345HP:0002080Intention tremor2PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1449305604325
HP:0002345HP:0002599Head titubation2PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1449305604325
HP:0002345HP:0007351Upper limb postural tremor2PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1449305604325
HP:0002345HP:0007351Upper limb postural tremor2SLC30A10 CL E G H55532309854ORPHA118825355611146
HP:0002345HP:0030147Truncal titubation2SLC30A10 CL E G H55532309854ORPHA118825355611146
HP:0002345HP:0002080Intention tremor2SLC30A10 CL E G H55532309854ORPHA118825355611146
HP:0002345HP:0002599Head titubation2SLC30A10 CL E G H55532309854ORPHA118825355611146
HP:0002345HP:0007351Upper limb postural tremor2SLC9A1 CL E G H6548616291Lichtenstein-knorr syndrome616291C4225383OMIM16611071107310
HP:0002345HP:0030147Truncal titubation2SLC9A1 CL E G H6548616291Lichtenstein-knorr syndrome616291C4225383OMIM16611071107310
HP:0002345HP:0002080Intention tremor2SLC9A1 CL E G H6548616291Lichtenstein-knorr syndrome616291C4225383OMIM16611071107310
HP:0002345HP:0002599Head titubation2SLC9A1 CL E G H6548616291Lichtenstein-knorr syndrome616291C4225383OMIM16611071107310
HP:0002345HP:0030147Truncal titubation2UROC1 CL E G H131669210128ORPHA18026444613012
HP:0002345HP:0002599Head titubation2UROC1 CL E G H131669210128ORPHA18026444613012
HP:0002345HP:0002080Intention tremor2UROC1 CL E G H131669210128ORPHA18026444613012
HP:0002345HP:0007351Upper limb postural tremor2UROC1 CL E G H131669210128ORPHA18026444613012
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002345HP:0002345Action tremor0DNAJC19 CL E G H13111866634ORPHA011130528608977
HP:0002345HP:0002345Action tremor0POLG CL E G H5428254886ORPHA019179179174763
HP:0002345HP:0002345Action tremor0TK2 CL E G H7084254886ORPHA035611831188250
HP:0002345HP:0030186Kinetic tremor1DNAJC19 CL E G H13111866634ORPHA011130528608977
HP:0002345HP:0030187Titubation1DNAJC19 CL E G H13111866634ORPHA011130528608977
HP:0002345HP:0030185Isometric tremor1DNAJC19 CL E G H13111866634ORPHA011130528608977
HP:0002345HP:0012477Vocal tremor1DNAJC19 CL E G H13111866634ORPHA011130528608977
HP:0002345HP:0002174Postural tremor1DNAJC19 CL E G H13111866634ORPHA011130528608977
HP:0002345HP:0030186Kinetic tremor1POLG CL E G H5428254886ORPHA019179179174763
HP:0002345HP:0030187Titubation1POLG CL E G H5428254886ORPHA019179179174763
HP:0002345HP:0030185Isometric tremor1POLG CL E G H5428254886ORPHA019179179174763
HP:0002345HP:0012477Vocal tremor1POLG CL E G H5428254886ORPHA019179179174763
HP:0002345HP:0002174Postural tremor1POLG CL E G H5428254886ORPHA019179179174763
HP:0002345HP:0002174Postural tremor1TK2 CL E G H7084254886ORPHA035611831188250
HP:0002345HP:0030187Titubation1TK2 CL E G H7084254886ORPHA035611831188250
HP:0002345HP:0030186Kinetic tremor1TK2 CL E G H7084254886ORPHA035611831188250
HP:0002345HP:0012477Vocal tremor1TK2 CL E G H7084254886ORPHA035611831188250
HP:0002345HP:0030185Isometric tremor1TK2 CL E G H7084254886ORPHA035611831188250
HP:0002345HP:0007351Upper limb postural tremor2DNAJC19 CL E G H13111866634ORPHA011130528608977
HP:0002345HP:0030147Truncal titubation2DNAJC19 CL E G H13111866634ORPHA011130528608977
HP:0002345HP:0002080Intention tremor2DNAJC19 CL E G H13111866634ORPHA011130528608977
HP:0002345HP:0002599Head titubation2DNAJC19 CL E G H13111866634ORPHA011130528608977
HP:0002345HP:0007351Upper limb postural tremor2POLG CL E G H5428254886ORPHA019179179174763
HP:0002345HP:0030147Truncal titubation2POLG CL E G H5428254886ORPHA019179179174763
HP:0002345HP:0002080Intention tremor2POLG CL E G H5428254886ORPHA019179179174763
HP:0002345HP:0002599Head titubation2POLG CL E G H5428254886ORPHA019179179174763
HP:0002345HP:0030147Truncal titubation2TK2 CL E G H7084254886ORPHA035611831188250
HP:0002345HP:0002080Intention tremor2TK2 CL E G H7084254886ORPHA035611831188250
HP:0002345HP:0002599Head titubation2TK2 CL E G H7084254886ORPHA035611831188250
HP:0002345HP:0007351Upper limb postural tremor2TK2 CL E G H7084254886ORPHA035611831188250


Genes (119) :ABCB7 ABHD12 AFG3L2 AKT1 ALDH18A1 ANO10 ANO3 ARSA ATCAY ATN1 ATP13A2 ATP2B3 ATP6 ATP6AP2 ATXN1 ATXN10 ATXN2 BRAT1 BSCL2 CACNA1A CACNA1G CAMTA1 CCDC88C COL6A3 COQ2 COX1 COX3 CSTB CTDP1 CWF19L1 CYTB DNAJC19 ELOVL4 EPRS FAM126A FBXO7 FGF14 FLVCR1 FMR1 FUS FXN GCH1 GJB1 GJC2 GSS IFRD1 ITM2B ITPR1 JPH3 KCNC3 KCND3 KCNJ10 KIF1C MAG MAOA MFN2 MPZ MRE11 ND1 ND2 ND4 ND4L ND5 ND6 NDUFS2 NGLY1 NIPA1 NKX6-2 NOP56 OPA3 PARK7 PEX10 PIK3CA PIK3R5 PLA2G6 PLP1 PMP22 PNPLA6 POLG POLR3A POLR3B PPP1R15B PPP2R2B PRICKLE1 PRKRA PSAP PTEN QRICH1 RARS REEP2 RNU12 SACS SCARB2 SCP2 SCYL1 SETX SLC30A10 SLC6A17 SLC9A1 SNCA SPTBN2 STUB1 TBP TENM4 TGM6 TH TK2 TMEM106B TMEM240 TMEM70 TPP1 TUBB4A UCHL1 UFC1 UROC1 VAPB VLDLR VWA3B XPNPEP3

Diseases (130) :101 300423 66634 606438 615273 254886 604326 309854 616291 210128 101109 447757 447760 420485 314632 104 535000 98755 98756 183090 100998 616411 98933 227510 609307 300623 614782 98808 128230 98771 206700 606658 98768 607346 397946 459056 300615 99947 100988 67036 606324 64753 447896 607694 616817 98762 210571 612067 401849 254900 616269 412057 616736 101150 607454 284324 609270 608627 613159 301310 612674 615109 284289 613728 309271 309263 94122 601238 314978 302500 98761 618056 98758 458803 314647 423275 616053 464440 308 48431 453521 133190 617951 610532 171695 88628 93256 95 1175 608804 613206 266130 117300 98769 208513 117360 612780 611302 180800 251347 527497 276198 614871 615108 610217 312080 215470 264090 614381 158350 617982 438114 616140 512260 98 613724 466794 352403 600224 615386 607136 276193 613908 617964 614052 98805 615491 618076 224050 616948
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.